0:07Skip to 0 minutes and 7 secondsWelcome to week five of this course on Clinical Bioinformatics, Unlocking Genomics in Healthcare. This week, we will bring the role of the clinical bioinformatician to life by working through authentic case studies and seeing how bioinformaticians apply their skills within a clinical setting. Sanjeev Bhaskar will describe the process by which the individual reads are pieced back together to map to the reference genome. We will also look at the steps needed to identify the specific variants within the sequencing data and those that could be associated with a particular patient's phenotype. We want you to be able to put together all the knowledge you have gained so far during the course and apply it to the case study of your choosing.

0:50Skip to 0 minutes and 50 secondsWe want you to really understand the clinical bioinformatics in its practical setting. From the activities this week, you will be able to see how bioinformaticians ensure that the data is high quality and the standards they have to adhere to ensure this. You should also be able to appreciate the wider context in which they work and how they contribute now and how they will contribute in the future to realising the benefits of genomic medicine.

Welcome to Week 5

Welcome to the final week of the course.

In this video, Andy Brass introduces the main focus for this week which is on the clinical setting and how bioinformatician’s apply their skill and, ensure high quality data through adherence to policies and standards.

We will return to St Mary’s Hospital and the Manchester Centre for Genomic Medicine to understand bioinformatics in the clinical setting and also focus authentic case studies to bring it all to life.

At the end of this week you will be able to:

Describe the steps in designing the analysis pipeline for cases investigating retinal dystrophy

Explain the importance of standardisation, accuracy and security in the bioinformatics workflow

List the approaches used in a retinal dystrophy study to validate the clinical variants

Identify the importance of ISO 15189 guideline for clinical bioinformaticians